(used for variant description)
(last modified September 17, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005915.5 in the MCM6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008958.1, covering MCM6 transcript NM_005915.5.
(upstream sequence)
. . . . . g.5016
aagagggggcggggcggaagcggcggcggcgcgcgcaaagctgcagcgtctg c.-61
. . . . . . g.5076
gaaaaaagcgacttgtggcggtcgagcgtggcgcaggcgaatcctcggcactaagcaaat c.-1
. . . . . . g.5136
ATGGACCTCGCGGCGGCAGCGGAGCCGGGCGCCGGCAGCCAGCACCTGGAGGTCCGCGAC c.60
M D L A A A A E P G A G S Q H L E V R D p.20
. . . . | 02. . g.8611
GAGGTGGCCGAGAAGTGCCAGAAACTGTTCCTGGACTTCTTGGAGGA | GTTTCAGAGCAGC c.120
E V A E K C Q K L F L D F L E E | F Q S S p.40
. . . . . . g.8671
GATGGAGAAATTAAATACTTGCAATTAGCAGAGGAACTGATTCGTCCTGAGAGAAACACA c.180
D G E I K Y L Q L A E E L I R P E R N T p.60
. . . . . . g.8731
TTGGTTGTGAGTTTTGTGGACCTGGAACAATTTAACCAGCAACTTTCCACCACCATTCAA c.240
L V V S F V D L E Q F N Q Q L S T T I Q p.80
. | 03 . . . . . g.11126
GAGGAGTTCTATAG | AGTTTACCCTTACCTGTGTCGGGCCTTGAAAACATTCGTCAAAGAC c.300
E E F Y R | V Y P Y L C R A L K T F V K D p.100
. . . . . . g.11186
CGTAAAGAGATCCCTCTTGCCAAGGATTTTTATGTTGCATTCCAAGACCTGCCTACCAGA c.360
R K E I P L A K D F Y V A F Q D L P T R p.120
| 04 . . . . . . g.12636
CACAA | GATTCGAGAGCTCACCTCATCCAGAATTGGTTTGCTCACTCGCATCAGTGGGCAG c.420
H K | I R E L T S S R I G L L T R I S G Q p.140
. . . . . . g.12696
GTGGTGCGGACTCACCCAGTTCACCCAGAGCTTGTGAGCGGAACTTTTCTGTGCTTGGAC c.480
V V R T H P V H P E L V S G T F L C L D p.160
. . . . . . g.12756
TGTCAGACAGTGATCAGGGATGTAGAACAGCAGTTCAAATACACACAGCCAAACATCTGC c.540
C Q T V I R D V E Q Q F K Y T Q P N I C p.180
. . . . . . g.12816
CGAAATCCAGTTTGTGCCAACAGGAGGAGATTCTTACTGGATACAAATAAATCAAGATTT c.600
R N P V C A N R R R F L L D T N K S R F p.200
. | 05 . . . . . g.14758
GTTGATTTTCAAAAG | GTTCGTATTCAAGAGACCCAAGCTGAGCTTCCTCGAGGGAGTATC c.660
V D F Q K | V R I Q E T Q A E L P R G S I p.220
. . . . . . g.14818
CCCCGCAGTTTAGAAGTAATTTTAAGGGCTGAAGCTGTGGAATCAGCTCAAGCTGGTGAC c.720
P R S L E V I L R A E A V E S A Q A G D p.240
. . . . . . g.14878
AAGTGTGACTTTACAGGGACACTGATTGTTGTGCCTGACGTCTCCAAGCTTAGCACACCA c.780
K C D F T G T L I V V P D V S K L S T P p.260
| 06 . . . . . . g.15223
G | GAGCACGTGCAGAAACTAATTCCCGTGTCAGTGGTGTTGATGGATATGAGACAGAAGGC c.840
G | A R A E T N S R V S G V D G Y E T E G p.280
. . . . . . g.15283
ATTCGAGGACTCCGGGCCCTTGGTGTTAGGGACCTTTCTTATAGGCTGGTCTTTCTTGCC c.900
I R G L R A L G V R D L S Y R L V F L A p.300
. . | 07. . . . g.16311
TGCTGTGTTGCGCCAACCAACCCAAGG | TTTGGGGGGAAAGAGCTCAGAGATGAGGAACAG c.960
C C V A P T N P R | F G G K E L R D E E Q p.320
. . . . . . g.16371
ACAGCTGAGAGCATTAAGAACCAAATGACTGTGAAAGAATGGGAGAAAGTGTTTGAGATG c.1020
T A E S I K N Q M T V K E W E K V F E M p.340
. . . . . | 08 g.18695
AGTCAAGATAAAAATCTATACCACAATCTTTGTACCAGCCTGTTCCCTACTATACATG | GC c.1080
S Q D K N L Y H N L C T S L F P T I H G | p.360
. . . . . . g.18755
AATGATGAAGTAAAACGGGGTGTCCTGCTGATGCTCTTTGGTGGCGTTCCAAAGACAACA c.1140
N D E V K R G V L L M L F G G V P K T T p.380
. . . . . . g.18815
GGAGAAGGGACCTCTCTTCGAGGGGACATAAATGTTTGCATTGTTGGTGACCCAAGTACA c.1200
G E G T S L R G D I N V C I V G D P S T p.400
. . | 09 . . . . g.22039
GCTAAGAGCCAATTTCTCAA | GCACGTGGAGGAGTTCAGCCCCAGAGCTGTCTACACCAGT c.1260
A K S Q F L K | H V E E F S P R A V Y T S p.420
. . . . . . g.22099
GGTAAAGCGTCCAGTGCTGCTGGCTTAACAGCAGCTGTTGTGAGAGATGAAGAATCTCAT c.1320
G K A S S A A G L T A A V V R D E E S H p.440
. . . . | 10 . . g.23455
GAGTTTGTCATTGAGGCTGGAGCTTTGATGTTGGCTGATAAT | GGTGTGTGTTGTATTGAT c.1380
E F V I E A G A L M L A D N | G V C C I D p.460
. . . . . . g.23515
GAATTTGATAAGATGGACGTGCGGGATCAAGTTGCTATTCATGAAGCTATGGAACAGCAG c.1440
E F D K M D V R D Q V A I H E A M E Q Q p.480
. . . | 11 . . . g.24588
ACCATATCCATCACTAAAGCAGGAGTGAAG | GCTACTCTGAACGCCCGGACGTCCATTTTG c.1500
T I S I T K A G V K | A T L N A R T S I L p.500
. . . . . . g.24648
GCAGCAGCAAACCCAATCAGTGGACACTATGACAGATCAAAATCATTGAAACAGAATATA c.1560
A A A N P I S G H Y D R S K S L K Q N I p.520
. . . . . . g.24708
AATTTGTCAGCTCCCATCATGTCCCGATTCGATCTCTTCTTTATCCTTGTGGATGAATGT c.1620
N L S A P I M S R F D L F F I L V D E C p.540
| 12 . . . . . . g.28580
AATGAG | GTTACAGATTATGCCATTGCCAGGCGCATAGTAGATTTGCATTCAAGAATTGAG c.1680
N E | V T D Y A I A R R I V D L H S R I E p.560
. . . . . . g.28640
GAATCAATTGATCGTGTCTATTCCCTCGATGATATCAGAAGATATCTTCTCTTTGCAAGA c.1740
E S I D R V Y S L D D I R R Y L L F A R p.580
. | 13 . . . . . g.29923
CAGTTTAAACCCAAG | ATTTCCAAAGAGTCAGAGGACTTCATTGTGGAGCAATATAAACAT c.1800
Q F K P K | I S K E S E D F I V E Q Y K H p.600
. . . . . . g.29983
CTCCGCCAGAGAGATGGTTCTGGAGTGACCAAGTCTTCATGGAGGATTACAGTGCGACAG c.1860
L R Q R D G S G V T K S S W R I T V R Q p.620
. . . . . | 14. g.33256
CTTGAGAGCATGATTCGTCTCTCTGAAGCTATGGCTCGGATGCACTGCTGTGATGAG | GTC c.1920
L E S M I R L S E A M A R M H C C D E | V p.640
. . . . . . g.33316
CAACCTAAACATGTGAAGGAAGCTTTCCGGTTACTGAATAAATCAATCATCCGTGTGGAA c.1980
Q P K H V K E A F R L L N K S I I R V E p.660
. . . . . . g.33376
ACACCTGATGTCAATCTAGATCAAGAGGAAGAGATCCAGATGGAGGTAGATGAGGGTGCT c.2040
T P D V N L D Q E E E I Q M E V D E G A p.680
. | 15 . . . . . g.35096
GGTGGCATCAATG | GTCATGCTGACAGCCCTGCTCCTGTGAACGGGATCAATGGCTACAAT c.2100
G G I N G | H A D S P A P V N G I N G Y N p.700
. . . . . . g.35156
GAAGACATAAATCAAGAGTCTGCTCCCAAAGCCTCCTTAAGGCTGGGCTTCTCTGAGTAC c.2160
E D I N Q E S A P K A S L R L G F S E Y p.720
. . . . | 16 . g.36768
TGCCGAATCTCTAACCTTATTGTGCTTCACCTCAGAAAGGTGGAAGAAG | AAGAGGACGAG c.2220
C R I S N L I V L H L R K V E E E | E D E p.740
. . . . . . g.36828
TCAGCATTAAAGAGGAGCGAGCTTGTTAACTGGTACTTGAAGGAAATCGAATCAGAGATA c.2280
S A L K R S E L V N W Y L K E I E S E I p.760
. . . . . . g.36888
GACTCTGAAGAAGAACTTATAAATAAAAAAAGAATCATAGAGAAAGTTATTCATCGACTC c.2340
D S E E E L I N K K R I I E K V I H R L p.780
| 17 . . . . . g.40541
ACACACTAT | GATCATGTTCTAATTGAGCTCACCCAGGCTGGATTGAAAGGCTCCACAGAG c.2400
T H Y | D H V L I E L T Q A G L K G S T E p.800
. . . . . . g.40601
GGAAGTGAGAGCTATGAAGAAGATCCCTACTTGGTAGTTAACCCTAACTACTTGCTCGAA c.2460
G S E S Y E E D P Y L V V N P N Y L L E p.820
g.40607
GATTGA c.2466
D X p.821
. . . . . . g.40667
gatagtgaaagtaactgaccagagctgaggaactgtggcacagcacctcgtggcctggag c.*60
. . . . . . g.40727
cctggctggagctctgctagggacagaagtgtttctggaagtgatgcttccaggatttgt c.*120
. . . . . . g.40787
tttcagaaacaagaattgagttgatggtcctatgtgtcacattcatcacaggtttcatac c.*180
. . . . . . g.40847
caacacaggcttcagcacttcctttggtgtgtttcctgtcccagtgaagttggaaccaaa c.*240
. . . . . . g.40907
taatgtgtagtctctataaccaatacctttgttttcatgtgtaagaaaaggcccattact c.*300
. . . . . . g.40967
tttaaggtatgtgctgtcctattgagcaaataactttttttcaattgccagctactgctt c.*360
. . . . . . g.41027
ttattcatcaaaataaaataacttgttctgaagttgtctattggatttctttctactgta c.*420
. . . . . . g.41087
ccctgattattacttccatctacttctgaatgtgagactttccctttttgcttaacctgg c.*480
. . . . . . g.41147
agtgaagaggtagaactgtggtattatggatgaggtttctatgagaaggagtcattagag c.*540
. . . . . . g.41207
aactcatatgaaagctagaggccttagagatgactttccaaggttaattccagttgtttt c.*600
. . . . . . g.41267
tttttttttttaagtttataaaagtttattatacttttttaaaattactctttagtaatt c.*660
. . . . . . g.41327
tattttacttctgtgtcctaagggtaatttctcaggattgttttcaaattgcttttttag c.*720
. . . . . . g.41387
gggaaataggtcatttgctatattacaagcaatccccaaattttatggtcttccaggaaa c.*780
. . . . . . g.41447
agttattaccgtttatgatactaacagttcctgagacttagctatgatcagtatgttcat c.*840
. . . . . . g.41507
gaggtggagcagttcctgtgttgcagcttttaacaacagatggcattcattaaatcacaa c.*900
. . . . . . g.41567
agtatgttaaaggtcacaaaagcaaaataactgtctgaggctaaggcccacgtgggacag c.*960
. . . . . . g.41627
tctaatacccatgagtactcaacttgccttgatgtctgagctttccagtgcaatgtgaat c.*1020
. . . . . . g.41687
ttgagcagccagaaatctattagtagaaagcaagacagattaatataggttaaaacaatg c.*1080
. . . . . . g.41747
atttaaatatgtttctcccaataattatctctttccctggaatcaacttgtatgaaacct c.*1140
. . . . . . g.41807
tgtcaaaatgtactccacaagtatgtacaattaagtattttaaaaataaatggcaaacat c.*1200
g.41816
taaaaacaa c.*1209
(downstream sequence)
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